Investigating the genetic causes of Aicardi syndrome

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study focuses on Aicardi syndrome, a neurodevelopmental disorder believed to be linked to genetic changes on the X-chromosome. Researchers are collecting blood and skin biopsy samples from affected patients and their parents to identify specific gene locations associated with the disorder. The methodology includes microarray analysis, mutation analysis through sequencing, genome-wide sequencing, and X chromosome inactivation studies to uncover potential genetic causes. The study aims to enhance understanding of Aicardi syndrome and its genetic underpinnings.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Features suggestive of Aicardi syndrome (not all features must be present)

  * Agenesis of the corpus callosum
  * Chorioretinal lacunae
  * Seizures (infantile spasms)

Exclusion Criteria:

* none

Where it's running

• Baylor College of Medicine
  Houston, Texas, United States Recruiting

Study contacts

• Principal investigator: Ignatia B Van den Veyver, MD — Baylor College of Medicine
• Study coordinator: Ignatia Van den Veyver, PMD
• Email: iveyver@bcm.edu
• Phone: 832-824-8125

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.